Canonical Allele Identifier: CA382022213

Gene: CTSC

Linked Data

• MyVariant Identifiers: chr11:g.88027617C>A (hg19) ; chr11:g.88294449C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.88294449C>A , CM000673.2:g.88294449C>A	GRCh38
NC_000011.9:g.88027617C>A , CM000673.1:g.88027617C>A	GRCh37
NC_000011.8:g.87667265C>A	NCBI36
NG_007952.1:g.48325G>T , LRG_50:g.48325G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000227266.10:c.949G>T MANE Select	ENSP00000227266.4:p.Val317Leu
ENST00000533897.2:n.5262G>T
ENST00000676612.1:c.*756G>T	ENSP00000504440.1:n.*756G>T
ENST00000677208.1:c.*455G>T	ENSP00000504347.1:n.*455G>T
ENST00000677661.1:c.*626G>T	ENSP00000503323.1:n.*626G>T
ENST00000677802.1:c.*626G>T	ENSP00000504115.1:n.*626G>T
ENST00000678395.1:c.*455G>T	ENSP00000503123.1:n.*455G>T
ENST00000678464.1:c.916G>T	ENSP00000503046.1:p.Val306Leu
ENST00000678506.1:c.910G>T	ENSP00000503580.1:p.Val304Leu
ENST00000678520.1:c.*600G>T	ENSP00000503361.1:n.*600G>T
ENST00000678554.1:c.889+1684G>T	ENSP00000504541.1:n.889+1684G>T
ENST00000678915.1:c.817G>T	ENSP00000504805.1:p.Val273Leu
ENST00000679224.1:c.586G>T	ENSP00000504475.1:p.Val196Leu
ENST00000227266.9:c.949G>T	ENSP00000227266.4:p.Val317Leu
ENST00000533897.1:n.3683G>T
NM_001814.4:c.949G>T , LRG_50t1:c.949G>T	NP_001805.3:p.Val317Leu
NM_001814.5:c.949G>T	NP_001805.3:p.Val317Leu
NM_001814.6:c.949G>T MANE Select	NP_001805.4:p.Val317Leu